常染色体显性进行性视神经萎缩和先天性耳聋综合征
The autosomal dominant syndrome of progressive optic atrophy and congenital deafness.
作者信息
Kollarits C R, Pinheiro M L, Swann E R, Marcus D F, Corrie W S
出版信息
Am J Ophthalmol. 1979 Jun;87(6):789-92. doi: 10.1016/0002-9394(79)90355-6.
PMID:453309
Abstract
Four members of a family had the heriditary syndrome of dominantly inherited progressive optic atrophy and congenital sensorineural deafness. Hearing evaluations revealed that two members had a potentially treatable form of deafness.
摘要
一个家族的四名成员患有显性遗传进行性视神经萎缩和先天性感音神经性耳聋的遗传性综合征。听力评估显示，两名成员患有潜在可治疗的耳聋形式。
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